ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
26 signs/symptoms

Severe neonatal-onset encephalopathy with microcephaly

Reynolds syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MECP2	(0.79)	LBR

Citations in the biomedical literature:

Severe neonatal-onset encephalopathy with microcephaly		Reynolds syndrome
	Synonym(s): - Severe congenital encephalopathy due to MECP2 mutation		Synonym(s): - Primary biliary cirrhosis and systemic scleroderma

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare hepatic disease - Rare renal disease - Rare skin disease - Rare systemic or rheumatologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Diseases of the digestive system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: x-linked recessive		Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: elderly Type of inheritance: sporadic

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references

Reynolds syndrome
	Very frequent - Asthenia / fatigue / weakness - Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hepatomegaly / liver enlargement (excluding storage disease) - Myalgia / muscular pain - Pruritus / itching Frequent - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Arthritis / synovitis / synovial proliferation - Chronic skin infection / ulcerations / ulcers / cancrum - Cutaneous rash - Dermal / subcutaneous infiltration / induration - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Fever / chilling - Irregular / in bands / reticular skin hyperpigmentation - Mouth dryness / xerostomia - Periarticular tissue anomaly / extraarticular calcifications - Telangiectasiae of mucosae - Telangiectasiae of the skin - Tight skin / lack of elasticity - Xerophthalmia / dry eyes Occasional - Ascitis - Cirrhosis - Encephalitis - Hepatitis / icterus / cholestasis - Lichen - Respiratory distress / dyspnea / respiratory failure / lung volume reduction
Severe neonatal-onset encephalopathy with microcephaly
(no data available)